Table 2.
Protein | Species | Function | Mutation | AIM Association | Phenotype | Refs. |
---|---|---|---|---|---|---|
PEX10 | At1 | Peroxisome elongation | G98 to E | TLGEEYCDIIQV | Vermiform peroxisome | 22 |
PEX10 | Hs2 | Peroxisome elongation | T68 to N | TLGEEYVSIIQV | Possibly damaging | 34 |
PEX10 | Hs2 | Peroxisome elongation | G70 to R | TLGEEYVSIIQV | Possibly damaging | 34 |
PEX10 | Hs2 | Peroxisome elongation | E71 to K | TLGEEYVSIIQV | Possibly damaging | 34 |
PEX10 | Hs2 | Peroxisome elongation | Q78 to R | TLGEEYVSIIQV | Possibly damaging | 34 |
PEX1 | Hs2 | Pex5 dislocation | R949 to W | FDEFESIAPRR | Possibly damaging | 34 |
PEX6 | At1 | Pex5p dislocation | R766 to Q | FDELDSLAPAR | PTS2 processing defect | 35 |
Arabidopsis thaliana.
Homo sapiens. The mutated amino acid is indicated in bold.